SMA in reality: why we need professional awareness and clear communicationKnowledge
Professional awareness of what spinal muscular atrophy (SMA) looks like in an infant and child, outside of specialist fields is reasonably limited. Perhaps even more limited is the understanding of what SMA means in reality to the people it affects.
The new SMA paediatric pathway has been designed to help both increase awareness of SMA and how it presents in infants, and to give professionals the confidence they need to share information effectively with those families affected by the condition.
Whilst SMA is a rare condition, 65 babies are born every year with it, and 60% of these will have the most severe form of SMA - type 1 - which affects babies before they reach 6 months of age. The earlier the condition is diagnosed, the more quickly the baby can receive life-changing treatment - a difference of a few days could mean very different outcomes for that baby.
'Ezra was 4 months old before we got a diagnosis. If it had been picked up at 5 weeks, when we were first admitted, Ezra's life - all our lives - could look so different.'
GPs, health visitors, practice nurses and even midwives who see babies regularly in their early months will often be amongst the first to see a baby with SMA. Awareness of the condition amongst these community practitioners is therefore essential.
Portia remembers her first visit to the local hospital after Ezra caught a cold from his older sister which developed into a chest infection with significant respiratory distress.
'When we were in the hospital, for Ezra's chest infection, a nurse did comment on his muscle tone, but the doctor said, 'We're not going to worry about that right now'.'
Whilst the doctor was undoubtedly focussed on ensuring Ezra was getting enough oxygen, the nurse was right to detect that red flag of muscle tone, which, combined with his respiratory difficulty, would ideally have prompted an immediate specialist referral.
Fig 1: Red flags in babies which need immediate referral to a specialist taken initial section of 'SMA paediatric pathway: overview'
The short animation accompanying this pathway gives three scenarios of different babies with different 'red flags', each scenario suggesting other signs to look for, and prompting specialist referral:
Ezra's chest infection did go hand in hand with feeding difficulties, but Portia had not noticed that he had difficulty feeding, and so had not highlighted this as a difficulty.
'I had a fierce letdown - I breastfed all my children and the other three had always coughed and sputtered a bit when they latched initially because of the surge in milk. I thought I was the same for Ezra.'
Portia explains that their local GP and health visitor both thought that Ezra's muscle weakness was caused by tiredness and a need to recuperate after his time in hospital with a chest infection and respiratory difficulties, where he had also lost a lot of weight.
'He was such a big, healthy looking baby - it masked the underlying problems even more.'
Portia and Ezra are keen to raise awareness amongst professionals, families affected by SMA, and the general public, and are keen for their experiences to help others. They document and share their lives and learning via Instagram at EzrasAadventures-smatype1
Clear communication with the parent or carer
Suspecting a child may have SMA not only calls for immediate referral, but for clear communication with the parent or carer of that child - and this can be difficult to get 'right'. We know that giving a good diagnosis is an essential component to how people experience the care that follows it, and we will look in more depth at giving a good diagnosis on 20th May.
However, before reaching diagnosis - and indeed, in all interactions with the family both leading up to diagnosis and beyond it, how we communicate is key.
Often, in the interests of avoiding panic or of misdiagnosing someone, less information might be given purposefully. We also know that information that is shared is not always heard or understood by the person receiving it. Managing this with confidence and clarity is important.
Portia felt that a great deal of her and Ezra's journey towards diagnosis was taken in the dark. The healthcare professionals caring for Ezra did not share any information with her regarding the tests they were doing, what they were looking for, or why, which she found distressing. She describes the moment that she was properly spoken with as strange and confusing.
'The doctor asked me something like, 'what are you really worried about it being?' or 'what is your greatest fear for him?' and I said 'Ezra being in a wheelchair for the rest of his life.' She looked at me and said, 'I can't promise that won't happen.'
Ezra's doctor was clearly trying to help Portia examine her own fears and perhaps prepare for a diagnosis of something which might be life-limiting without giving a diagnosis. Sharing some information about what they suspected and what it meant may have been more helpful.
As an example, Portia recalls, 'A nurse spent a great deal of time trying to see Ezra's tongue but he was crying relentlessly. I couldn't understand why it was so important.'
Portia explains that as she knew that Ezra's legs were floppy, it would have been helpful to know they wanted to see Ezra's tongue to find out if any of his other muscles were also struggling to work.
Being able to prepare for the practical elements of a healthcare journey can be important, both in terms of allowing the parent or carer to feel in control of the situation, but also to ensure that they can manage the impact on their wider life and other family members.
'We got the phone call at 10am to come into London that day - I rushed around getting childcare sorted for my other 3 and drove the two hours. The medical staff must have had suspicions by this point - once we got there [to the specialist hospital] they asked us to stay in for 2 weeks, though they hadn't said so before I got there.'
Clear communication about the possible length of a hospital stay, for example, can allow a parent to prepare for that stay, make arrangements for childcare or cover at work. Removing these other concerns can reduce other stresses on the parent, making the experience overall feel better. For Portia, having been unable to make these plans in advance meant that she felt she had to return home to her other three children - and so Ezra did not remain at the hospital as staff would have preferred.
When we work in a particular environment, the terms, acronyms, and processes become second-nature and we can forget that those outside of that working environment don't share that knowledge. In a stressed or vulnerable state, it can be a struggle to take in what is being said, even in the plainest of language.
Portia describes, with wry amusement at her lack of understanding, the moment when she was asked if she was happy to go home without a care package.
'I said yes. I thought they meant a parcel - I didn't want any more stuff! So without realising, I agreed to come home with no help, all this new equipment, all these new procedures. Frankly I was terrified, but didn't want to admit it.'
After having been given a host of different machines and equipment as well as the intensive training in how to use them, she felt overwhelmed by 'stuff' and did not realise she was turning down practical support.
Communicating in plain language, and remembering to describe what we mean exactly in lay language can remove confusion. It can also make information more digestible at a time where the person receiving that information is likely feeling overwhelmed and struggling to comprehend what is being said.
Providing information in fully accessible written and online formats can also be very helpful so that the individual can return to the information when they are better able to take it in. Above all, bringing an awareness of what the person who is hearing it is experiencing at that time is essential, and will hopefully colour any communication for the better.